G17G (p.Gly17Gly) variant of PDGFRA (P16234)
G17G (p.Gly17Gly) in PDGFRA (P16234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G17G (p.Gly17Gly) variant details
- p.Gly17Gly
- gnomAD 4-54261096-G-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available